Study of thrombophilic gene polymorphisms in Egyptian patients with deep venous thrombosis using in situ hybridization technique.

Abstract

Up to 70% of thrombotic patients with no identifiable risk factors were termed idiopathic. Now, molecular diagnostics combined with existing laboratory techniques allow accurate classification of at least half of patients with inherited thrombotic disorders. However, the previously studied genetic variants explain only a fraction of all thromboembolic events, so the aim of the present study was to expand the genetic prevalence determination to include also more extensive thrombophilic gene polymorphisms in patients with DVT compared to healthy subjects in Egyptian population. This study was conducted on 75 patients with DVT and 45 age and sex matched healthy subjects as control group. The diagnosis of DVT was based on patient’s history, clinical findings, D-dimer test, and confirmed by Doppler ultrasonography. Both groups were assessed for thrombophilic gene polymorphisms using multiplex polymerase chain reaction and reverse-hybridization technique through CVD strip assay. It was found that FV Leiden G1691A (P=0.001), Factor V H1299R (P=0.02), MTHFR A1298C (P=0.02), β-fibrinogen−455 G/A (P=0.01), PAI-1 4G/5G (P=0.03) and ACE (P=0.03) polymorphisms were all significantly associated with an increased risk of DVT. Our data are of extreme importance in clinical practice for introducing the extended CVD panel into routine molecular diagnostic tests to allow management of thrombotic patients and screening, thromboprophylaxis and genetic counselling for high-risk individuals.